Autopsy case of V180I genetic Creutzfeldt-Jakob disease presenting with early disease pathology
Autopsy case of V180I genetic Creutzfeldt-Jakob disease presenting with early disease pathology
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DOI：
10.1111/neup.12516
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发表时间：
2018-12-01
期刊：
影响因子：
2.3
通讯作者：
Yoshida, Mari
中科院分区：
文献类型：
--
作者：
Iwasaki, Yasushi;Kato, Hiroko;Yoshida, Mari
患者是一名日本女性，在86岁时以活动减少和步态障碍为首发症状，随后出现定向障碍和记忆障碍。磁共振成像在弥散加权图像上显示广泛的高信号皮质区域，在T2加权和液体衰减反转恢复(FLAIR)图像上这些区域显示肿胀。弥散加权成像(DWI)显示枕叶内侧皮质和纹状体无明显高信号。检测到轻度肌阵挛，患者在症状出现10个月后死亡；她没有进入静止性沉默状态。患者脑重1050克，神经病理检查显示大脑皮质广泛分布大小不融合的空泡。在苏木精-伊红染色的组织图像上，通过放大镜可观察到这些空泡。胶质细胞增生症、肥大性星形胶质细胞增生症和神经元缺失通常特征较轻。Prion Protein(PrP)免疫组织化学染色显示大脑灰质有非常轻微的弥漫性突触PrP沉积。这些临床病理结果使我们得出以下几个结论：(1)与V180I遗传性克雅氏病的早期疾病病理相对应，V180I遗传性克雅病患者的枕内侧皮质未见海绵状改变；(2)大脑皮层广泛识别的VaSNoC型海绵状改变与DWI所见持续高信号、高亮度及T2加权和FLAIR图像相对应；(3)海绵状改变首先出现在大脑皮层深层，随后出现在浅层。
The patient was a Japanese woman who experienced a decrease in activity and gait disturbance as the initial symptoms at the age of 86, followed by disorientation and memory dysfunction. Magnetic resonance imaging showed extensive cortical regions with hyperintensity in diffusion-weighted images, and these regions showed swelling in T2-weighted and fluid-attenuated inversion recovery (FLAIR) images. The medial occipital cortex and striatum showed no apparent hyperintensity on diffusion-weighted imaging (DWI). Mild myoclonus was detected, and the patient died 10 months after the onset of symptoms; she did not enter the akinetic mutism state. The patient's brain weighed 1050 g, and neuropathological examination showed extensive characteristic various-sized and non-confluent (VaSNoC) vacuoles in the cerebral cortex. These vacuoles were observable macroscopically by loupe on images of hematoxylin and eosin-stained tissue. Gliosis, hypertrophic astrocytosis, and neuron loss were generally mild in character. Prion protein (PrP) immunostaining showed very mild diffuse-synaptic-type PrP deposition in the cerebral gray matter. These clinicopathological findings led us to several conclusions relative to the early disease pathology of V180I genetic Creutzfeldt-Jakob disease: (i) spongiform change was not found in the medial occipital cortex, which corresponds to the results of DWI; (ii) VaSNoC-type spongiform changes, extensively recognized in the cerebral cortex, corresponded to the DWI findings showing continued hyperintensity with higher brightness, and T2-weighted and FLAIR images findings showing a swelling; and (iii) spongiform changes first appear in the deeper layer and subsequently in the superficial layer in the cerebral cortex.